Results 111 to 120 of about 1,757 (183)

Fabry disease: Enfermedad de fabry

, 2018
RESUMEN La enfermedad de Fabry es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima alfa galactosidasa A, con patrón de herencia ligado al cromosoma X. El cuadro clínico tiene una variedad de síntomas y signos; y se han descrito una variante clínica clásica y variantes clínica no clásica como la renal o cardíaca.
openaire   +1 more source

CS8 THE ECONOMIC BURDEN OF GAUCHER AND FABRY'S DISEASE IN COLOMBIA. IMPLICATIONS FOR NATIONAL HEALTH INSURANCE

, 2009
DM Pinto, R McDermott Dennis, Oscar Parra   +2 more
openalex   +1 more source

A case of Fabry's disease with congenital agammaglobulinemia. [PDF]

J Korean Med Sci, 2011
Lee KY, Jeon SY, Hong JW, Kim SE, Song KH, Kim YH, Kim KH.   +6 more
europepmc   +1 more source

Endoscopic treatment of a Fabry disease-related, lumen-obstructing colonic tumor. [PDF]

United European Gastroenterol J, 2023
Lux TJ, Meining A.
europepmc   +1 more source

A PEDIGREE WITH FABRY'S DISEASE

, 1975
Masaomi Shindo, Nobuo Yanagisawa, Hiroshi Tsukagoshi, Takayoshi INOUE, Naruko KAWAMURA, Yuji ICHIKAWA   +5 more
openalex   +2 more sources

Headache Associated With Aseptic Meningeal Reaction as Clinical Onset of Fabry's Disease [PDF]

, 1995
Eiichiro Uyama, N. Ueno, Miki Uchino, Tomohiro Narahara, Misao Ōwada, Tamotsu Taketomi, Masaru Ando   +6 more
openalex   +1 more source

A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease. [PDF]

J Korean Neurosurg Soc, 2013
Chang YH, Hwang SK.
europepmc   +1 more source

Fabry's disease [PDF]

Arthritis & Rheumatism, 1980
J. Crouzet, L. Beraneck, Y. Le Charpentier, R. Abelanet   +3 more
openaire   +1 more source

Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study. [PDF]

Ren Fail, 2017
Yeniçerioğlu Y, Akdam H, Dursun B, Alp A, Sağlam Eyiler F, Akın D, Gün Y, Hüddam B, Batmazoğlu M, Gibyeli Genek D, Pirinççi S, Ersoy İR, Üzüm A, Soypaçacı Z, Tanrısev M, Çolak H, Demiral Sezer S, Bozkurt G, Akyıldız UO, Akyüz Ünsal Aİ, Ünübol M, Uslu M, Eryılmaz U, Günel C, Meteoğlu İ, Yavaşoğlu İ, Ünsal A, Akar H, Okyay P.   +28 more
europepmc   +1 more source

Is there a pathogenic association between Fabry's disease and IgA nephropathy? [PDF]

Clin Nephrol Case Stud, 2013
Fujinaga S, Murakami H, Kubota M, Mochizuki H, Shimizu T.   +4 more
europepmc   +1 more source